Variant (rsID / SNP)

rs121918677

rs121918677 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TF. Location: chromosome 3, position 133,496,032. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TFConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:133496032
Cytoband: 3q22.1
HGVS: NM_001063.4(TF):c.2012G>A (p.Gly671Glu)
Allele change: Missense_G627E

Associated conditions / phenotypes

Transferrin variant b2|Atransferrinemia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.